| 1 | ARX, XLAG
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| Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.
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| Kitamura K, Itou Y, Yanazawa M, Ohsawa M, Suzuki-Migishima R, Umeki Y, Hohjoh H, Yanagawa Y, Shinba T, Itoh M, Nakamura K, Goto Y.
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| Hum Mol Genet 18(19):3708-24. Epub 2009 Jul 15.PMID: 19605412 2009
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| 2 | ACLS1, ACS1, AIC, ATRX, CFNS, COMA, CSS, DCX, FCMD, FCMD, FGS1, FRNS, GCPS, LJFS2, MASA, MDS, MEB, MKS1, MLS, MOWS, NBCCS2, OFD1, OGS1, OGS2, RSTS2, SOPT, WARBM1, WLKWS1, WLKWS2, XLAG
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| Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
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| Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.
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| Am J Med Genet A 146A(19):2501-11. 2008
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| 3 | ARX, XLAG
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| A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia.
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| Bhat SS, Rogers RC, Holden KR, Srivastava AK.
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| Am J Med Genet A 138(1):70-2. No abstract available. 2005
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| 4 | ARX, XLAG
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| Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
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| Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB.
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| Hum Mutat 23(2):147-59. 2004
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| 5 | XLAG, ARX
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| ARX mutations in X-linked lissencephaly with abnormal genitalia.
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| Uyanik G, Aigner L, Martin P, Gross C, Neumann D, Marschner-Schafer H, Hehr U, Winkler J.
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| Neurology 61(2):232-5. 2003
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| 6 | ARX, XLAG
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| Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
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| Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K.
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| Nat Genet 32(3):359-69. 2002
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| 7 | XLAG, ARX
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| New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.
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| Proud VK, Levine C, Carpenter NJ.
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| Am J Med Genet 43(1-2):458-66. 1992
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